家族性神经棘红细胞增多症  

Familial neuroacanthocytosis

作　　者：刘淑萍[1] 李大年[1] 王淑贞[1] 侯明[2] 赵庆胜[1] 伦九红 田晓雯 单培彦[1] 

机构地区：[1]山东医科大学附属医院神经内科,济南250012 [2]山东医科大学附属医院血液科,济南250012 [3]山东省寿光市人民医院 [4]山东省武警警官医院

出　　处：《中华神经科杂志》2001年第1期16-18,共3页Chinese Journal of Neurology

摘　　要：目的　报道神经棘红细胞增多症一家系 3例。方法　对先证者进行临床、血生化、激素水平及红细胞形态的布氏相差显微镜及扫描电镜观察。结果　此家系中患者均为 2 0岁左右起病的女性 ,主要症状为进行性舞蹈样动作 ,睡眠后舞蹈动作并不消失。先证者有精神抑郁、棘形红细胞增多 (扫描电镜观察百分比为 44 3% )、血浆载脂蛋白B10 0 水平明显降低 (0 2 6g/L)及泌乳素水平显著升高 (96 3μg/L)特征。 结论　先证者的临床表现、化验检查及电镜观察结果 ,符合神经 棘红细胞增多症的诊断。此病例除载脂蛋白B10 0 缺乏外 ,还同时伴有高泌乳素血症。Objective To report 3 cases of neuroacanthocytosis in a family. Methods The proband was studied clinically with biochemistry, hormone, and red blood cells observation Results All patients in this family were females with progressive choreiform movements, and the age of onset was about at 20 years old The choreiform movements did not disappear in sleeping state The proband had mental depression,the percentage of acanthocytes was 45 2% under observation with phase contrast microscope (PCM) and 44 3% with scanning electron microscope (SEM),the concentration of apolipoprotein B100 was markedly decreased(0 26 g/L) and the prolactin (PRL)concentration was increased (96 3 μg/L) more than normal level Conclusions The manifestations of the proband were in conformity with those of the neuroacanthocytosis The patient had an apolipoprotein B100 metabolic defect and a high PRL secretion The observation with PCM and SEM is able to reveal the acanthocytes cell count accurately

关 键 词：红细胞增多症 载脂蛋白B类 催乳素 棘红细胞 

分 类 号：R742.2[医药卫生—神经病学与精神病学]